← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-769898-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=769898&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLOD4",
"hgnc_id": 14111,
"hgvs_c": "c.1000G>T",
"hgvs_p": "p.Asp334Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001389725.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.271,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7542860507965088,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 298,
"aa_ref": "D",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 827,
"cds_end": null,
"cds_length": 897,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_016080.4",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Asp268Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301329.11",
"protein_coding": true,
"protein_id": "NP_057164.3",
"strand": false,
"transcript": "NM_016080.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 298,
"aa_ref": "D",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 827,
"cds_end": null,
"cds_length": 897,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000301329.11",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Asp268Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016080.4",
"protein_coding": true,
"protein_id": "ENSP00000301329.6",
"strand": false,
"transcript": "ENST00000301329.11",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 313,
"aa_ref": "D",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 871,
"cds_end": null,
"cds_length": 942,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000301328.9",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.847G>T",
"hgvs_p": "p.Asp283Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301328.5",
"strand": false,
"transcript": "ENST00000301328.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 364,
"aa_ref": "D",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1000,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389725.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.1000G>T",
"hgvs_p": "p.Asp334Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376654.1",
"strand": false,
"transcript": "NM_001389725.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 335,
"aa_ref": "D",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1008,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389726.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Asp305Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376655.1",
"strand": false,
"transcript": "NM_001389726.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 335,
"aa_ref": "D",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1008,
"cds_start": 913,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891260.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Asp305Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561319.1",
"strand": false,
"transcript": "ENST00000891260.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 326,
"aa_ref": "D",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": 827,
"cds_end": null,
"cds_length": 981,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001389727.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.802G>T",
"hgvs_p": "p.Asp268Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376656.1",
"strand": false,
"transcript": "NM_001389727.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 313,
"aa_ref": "D",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 872,
"cds_end": null,
"cds_length": 942,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001366247.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.847G>T",
"hgvs_p": "p.Asp283Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353176.1",
"strand": false,
"transcript": "NM_001366247.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 296,
"aa_ref": "D",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 882,
"cds_end": null,
"cds_length": 891,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940416.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.796G>T",
"hgvs_p": "p.Asp266Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610475.1",
"strand": false,
"transcript": "ENST00000940416.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 293,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 810,
"cds_end": null,
"cds_length": 882,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940420.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Asp263Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610479.1",
"strand": false,
"transcript": "ENST00000940420.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 293,
"aa_ref": "D",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 830,
"cds_end": null,
"cds_length": 882,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956992.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Asp263Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627051.1",
"strand": false,
"transcript": "ENST00000956992.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 870,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001366249.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.775G>T",
"hgvs_p": "p.Asp259Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353178.1",
"strand": false,
"transcript": "NM_001366249.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 900,
"cds_end": null,
"cds_length": 870,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001366250.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.775G>T",
"hgvs_p": "p.Asp259Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353179.1",
"strand": false,
"transcript": "NM_001366250.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 870,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389728.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.775G>T",
"hgvs_p": "p.Asp259Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376657.1",
"strand": false,
"transcript": "NM_001389728.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 955,
"cds_end": null,
"cds_length": 870,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389729.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.775G>T",
"hgvs_p": "p.Asp259Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376658.1",
"strand": false,
"transcript": "NM_001389729.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 289,
"aa_ref": "D",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 870,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389730.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.775G>T",
"hgvs_p": "p.Asp259Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376659.1",
"strand": false,
"transcript": "NM_001389730.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 285,
"aa_ref": "D",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 788,
"cds_end": null,
"cds_length": 858,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001389731.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.763G>T",
"hgvs_p": "p.Asp255Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376660.1",
"strand": false,
"transcript": "NM_001389731.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 280,
"aa_ref": "D",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 773,
"cds_end": null,
"cds_length": 843,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001389732.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.748G>T",
"hgvs_p": "p.Asp250Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376661.1",
"strand": false,
"transcript": "NM_001389732.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 280,
"aa_ref": "D",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 822,
"cds_end": null,
"cds_length": 843,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940417.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.748G>T",
"hgvs_p": "p.Asp250Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610476.1",
"strand": false,
"transcript": "ENST00000940417.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 279,
"aa_ref": "D",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": 770,
"cds_end": null,
"cds_length": 840,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001389733.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.745G>T",
"hgvs_p": "p.Asp249Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376662.1",
"strand": false,
"transcript": "NM_001389733.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 269,
"aa_ref": "D",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 740,
"cds_end": null,
"cds_length": 810,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389734.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Asp239Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376663.1",
"strand": false,
"transcript": "NM_001389734.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 713,
"cds_end": null,
"cds_length": 783,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001389735.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Asp230Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376664.1",
"strand": false,
"transcript": "NM_001389735.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 260,
"aa_ref": "D",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 717,
"cds_end": null,
"cds_length": 783,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891259.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Asp230Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561318.1",
"strand": false,
"transcript": "ENST00000891259.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 242,
"aa_ref": "D",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 729,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001366248.2",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Asp212Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353177.1",
"strand": false,
"transcript": "NM_001366248.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 241,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 689,
"cds_end": null,
"cds_length": 726,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940418.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.631G>T",
"hgvs_p": "p.Asp211Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610477.1",
"strand": false,
"transcript": "ENST00000940418.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 114,
"aa_ref": "D",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 447,
"cdna_start": 252,
"cds_end": null,
"cds_length": 345,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000573137.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.250G>T",
"hgvs_p": "p.Asp84Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458849.1",
"strand": false,
"transcript": "ENST00000573137.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 242,
"aa_ref": "D",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 731,
"cds_end": null,
"cds_length": 729,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047436196.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.634G>T",
"hgvs_p": "p.Asp212Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292152.1",
"strand": false,
"transcript": "XM_047436196.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 231,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": null,
"cds_end": null,
"cds_length": 696,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001389736.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.630+523G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376665.1",
"strand": false,
"transcript": "NM_001389736.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": 681,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000576419.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.630+523G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460634.1",
"strand": false,
"transcript": "ENST00000576419.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940419.1",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "c.543+1427G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610478.1",
"strand": false,
"transcript": "ENST00000940419.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000571073.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.1366G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000571073.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1314,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000574554.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*825G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000459446.1",
"strand": false,
"transcript": "ENST00000574554.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575528.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*205G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460423.1",
"strand": false,
"transcript": "ENST00000575528.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000575851.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*757G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461829.1",
"strand": false,
"transcript": "ENST00000575851.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000576239.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.1921G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000576239.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1314,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000574554.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*825G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000459446.1",
"strand": false,
"transcript": "ENST00000574554.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575528.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*205G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460423.1",
"strand": false,
"transcript": "ENST00000575528.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1063,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000575851.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*757G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461829.1",
"strand": false,
"transcript": "ENST00000575851.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 853,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000575790.5",
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"hgvs_c": "n.*783G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458796.1",
"strand": true,
"transcript": "ENST00000575790.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs746588800",
"effect": "missense_variant",
"frequency_reference_population": 0.000010580522,
"gene_hgnc_id": 14111,
"gene_symbol": "GLOD4",
"gnomad_exomes_ac": 15,
"gnomad_exomes_af": 0.0000103133,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.000013133,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.5,
"pos": 769898,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.628,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_001389725.1"
}
]
}